Search for dissertations about: "minisequencing"

Showing result 1 - 5 of 13 swedish dissertations containing the word minisequencing.

  2. 1. Using Minisequencing Technology for Analysing Genetic Variation in DNA and RNA

    Author : Mona Fredriksson; Ann-Christine Syvänen; Aarno Palotie; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Molecular medicine; microarray; minisequencing; molecular medicine; single nucleotide polymorphism; stem cell transplantation; whole genome amplification; allelic imbalance; alternative splicing; Molekylärmedicin; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ;

    Abstract : In this thesis, the four-color fluorescence tag-microarray minisequencing system pioneered by our group was further developed and applied for analysing genetic variation in human DNA and RNA. A SNP marker panel representing different chromosomal regions was established and used for identification of informative SNP markers for monitoring chimerism after stem cell transplantation (SCT). READ MORE

  4. 2. Analysis of Nucleotide Variations in Non-human Primates

    Author : Ann-Charlotte Rönn; Ann-Christine Syvänen; Mats Nilsson; Phillip Morin; Uppsala universitet; []
    Keywords : Molecular genetics; SNP; genotyping; primate; chimpanzee; whole genome amplification; multiple displacement amplification; minisequencing; microarray; Y-chromosome; mitochondria; Genetik;

    Abstract : Many of our closest relatives, the primates, are endangered and could be extinct in a near future. To increase the knowledge of non-human primate genomes, and at the same time acquire information on our own genomic evolution, studies using high-throughput technologies are applied, which raises the demand for large amounts of high quality DNA. READ MORE

  5. 3. Accessing Genetic Variation by Microarray Technology

    Author : Katarina Lindroos; Edwin Southern; Uppsala universitet; []
    Keywords : Medical sciences; microarrays; SNPs; minisequencing; four-colour detection; allele frequency; population study; evolutionary biology; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Molekylär medicin; Molecular Medicine;

    Abstract : Microarray technology is a promising approach for the simultaneous analysis of multiple single nucleotide polymorphisms (SNPs), which are the most abundant form of genetic variation. In this thesis enzyme-assisted microarray-based methods were developed to improve the accuracy and genotype discrimination power of the current methods for SNP genotyping. READ MORE

  6. 4. Evaluation of New Technologies for Forensic DNA Analysis

    Author : Anna-Maria Divne; Marie Allen; Joakim Lundeberg; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; STR; SNP; SIDS; mtDNA; HVI HVII SSOP linear array; minisequencing; tag arrays; Pyrosequencing; Genetik; Clinical genetics; Klinisk genetik;

    Abstract : DNA samples from crime scenes or mass disasters are often limited and degraded which limits the possibility of successful traditional STR analysis. Moreover, there is a need to decrease the turnaround time in criminal investigations. READ MORE

  7. 5. Large-Scale Genotyping for Analysis of the Type I Interferon System in Autoimmune Diseases

    Author : Snaevar Sigurdsson; Ann-Christine Syvänen; Timothy Behrens; Uppsala universitet; []
    Keywords : Molecular medicine; Minisequencing; SNP; Microarray; Polymorphism; Mitochondria; Systemic Lupus Erythematosus; Rheumatoid Arthritis; Association study; Type I interferon; Genotyping; Molekylärmedicin;

    Abstract : Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation. We developed a novel multiplexed method for SNP genotyping based on four-color fluorophore tag-microarray minisequencing. This method allows simultaneous genotyping of 80 samples and up to 200 SNPs in any allele combination. READ MORE